ClinVar Miner

List of variants studied for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025 0.00002
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212 0.00001
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034

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